A safer and more accurate test for Down’s Syndrome is to be introduced in Wales, the Welsh Government has announced.
Non-invasive prenatal testing (NIPT) will be introduced within the antenatal screening programme in Wales, Public Health Minister Rebecca Evans AM has confirmed.
An ultrasound scan is typically offered when women are between 11 and 14 weeks pregnant as an initial test and measures nuchal translucency – a pocket of fluid – at the back of the baby’s neck.
If the risk of Down’s Syndrome is deemed high – usually above one in 150 – women are offered an invasive diagnostic test known as amniocentesis to confirm the diagnosis. This carries a small risk of miscarriage.
NIPT will be offered as an additional option to the invasive tests from next year. For women who receive a negative result, no further tests will be required. It is expected that 1 to 2 babies per year in Wales will be saved from miscarriage as a result of the introduction of NIPT.
Public Health Minister Rebecca Evans said: “The Welsh Government has accepted the recommendations made by the UK National Screening Committee and the Wales Screening Committee to introduce Non-Invasive Prenatal Testing (NIPT) as an additional option for women identified as higher chance for Down’s, and to add screening for Edwards’ and Patau’s syndrome and screening in twin pregnancies within the screening pathway in Wales.
“NIPT is more accurate than the current primary tests. A negative NIPT result will offer pregnant women the reassurance they need, without the need for a further invasive diagnostic test – reducing the unnecessary harm from miscarriage that can be caused through the use of these tests.”
The introduction of NIPT will be evaluated over the next three years, in line with recommendations made by the UK National Screening Committee and the Wales Screening Committee.
Julian Hallett, services development Manager, Down’s Syndrome Association in Wales, said: “It is important that NHS staff are ready to support women and explain the new choices for screening.
“While the NIPT test is more accurate, in order for women to obtain a confirmed pre-natal diagnosis they will still need to undergo an invasive procedure.
“It is essential that health professionals, such as midwives and screening coordinators, are properly trained about the genetic condition before the new screening is rolled out.
“Those women who receive NIPT results will be placed in a position which may lead some to make a decision on whether they continue with their pregnancy.
“It’s a life-changing decision. We are currently working with families, Public Health England, The Royal College of Obstetricians and Gynaecologists and Down’s Syndrome Scotland to develop training for all those professionals involved in the prenatal screening process and look forward to being involved in this process in Wales as well.
“Many parents of children with Down’s syndrome report the information they get from health professionals is too negative.
“We want to be able to ensure they balance that by giving positive information about the condition and explain the increased opportunities for children and adults with Down’s syndrome today.
“It is vital that women have rapid access to appropriate counselling so they can make an informed decision which is right for them.”